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ASH1L LONGITUDINAL CASE PROFILE
Report transcript + cDNA
Report protein consequencep.Arg2146*
Normalized MANE/map notationNM_018489.3:c.6436C>T · NP_060959.2:p.Arg2146*
A warm, determined preschool-age girl with a highly variable history across development, communication, growth, feeding, bowel function, movement, vision, sensory regulation, spells, sleep, temperature, and medication response
Chapter 04Movement, vision, and sensory regulation
Low tone and hypermobility appear in her clinical history, while her family describes tone as state dependent. At times she can appear strong, highly active, and coordinated. At others she may seem rag-doll-like or floppy, unusually stiff, or less able to coordinate her body.
Family and therapy observations have included a wide, galloping, unsteady, or asymmetric gait; frequent falls; occasional limping or leg dragging; temporary body tilting or leaning; weak or delayed postural corrections; difficulty grading movement; overshooting or undershooting a spoon; and running into objects. During one period at approximately 35 months, she was unable to carry a preschool backpack weighing no more than about three pounds and fell backward repeatedly.
Her family identifies the left leg as longer. The degree of the difference and its effect on her pelvis, posture, or gait have not yet been formally measured.
At approximately 35–36 months, a gait change lasting several days included the left leg appearing to give out, stiffen, or drag during climbing. It improved after an increase in senna and greater stool output. That temporal improvement does not prove that stool retention caused the gait change.
These longitudinal concerns coexist with a reassuring formal neurological examination at approximately 31 months: tone, bulk, strength, reflexes, sensation, fine-motor function, gait, and balance were normal that day; no abnormal movement or reaching ataxia was seen; and she climbed and changed position independently. The contrast is important. Her difficulties fluctuate, and a normal examination at one visit neither invalidates family observations nor predicts every other state.
Later school records noted improved stair use with alternating feet, while skipping or galloping remained asymmetric, with the right foot leading. At the later sleep-medicine visit, another formal examination documented normal tone, strength, coordination, reflexes, and gait on that day. Her family continues to identify the left leg as longer, but an objective measurement and its effect on pelvic alignment or gait have not been documented.
Her visual history includes bilateral hyperopia, astigmatism, intermittent or frequent esotropia, and glasses. Esotropia was directly observed at more than one clinical visit. An earlier prescription was approximately +4.50 sphere/+1.00 cylinder in the right eye and +4.00 sphere/+0.50 cylinder in the left, followed later by approximately +3.50/−0.50 in the right and +2.50/−0.50 in the left. Because the prescriptions use different cylinder notation, the numerical change cannot be interpreted as a simple improvement or worsening.
Pediatric ophthalmology later documented alternating intermittent esotropia and bilateral hyperopia. The esotropia was described as historically present from birth and small or intermittent during that examination. Glasses versus observation were discussed; a small or intermittent finding on one examination does not erase the more frequent eye turning observed at other times.
School physical-therapy observations added a functional view. Without glasses, she often held her gaze straight ahead or downward and appeared reluctant to look up. Alternating convergence increased with upgaze, and the left eye moved inward during repeated upgaze. Her eye position and visual access showed definite improvement with glasses, although she needed encouragement to keep them on.
In a later ophthalmology visit described by the family, visual acuity was not the clinician’s main concern; the focus remained both eyes turning. Drops were prescribed for use as needed to blur vision and support glasses wear. The clinician was not concerned by her limited upgaze at that visit, and follow-up was planned. These findings support continued monitoring rather than showing that the earlier esotropia had resolved.
Thunder, airplanes, garage doors, and other loud or unexpected sounds may lead to shaking, freezing, covering her eyes or ears, shutting down, or saying that she is scared. Hugs, clear structure, and deep pressure can help her recover. At other times, she actively seeks music, noise, movement, inversion, water, and intense sensory input. These are not contradictory; her response depends on context and body state.
During some periods of internal distress, her family has observed upside-down positioning, pinching at her face or chest, pressing herself into corners or boundaries, nail or skin picking, and more difficulty settling. Head banging had stopped by the later genetics visit, but fist slamming, pinching, and picking or chewing at nails, toes, and skin continued intermittently.
Her outward pain response is reduced, delayed, inconsistent, or sometimes mislocalized—not absent. At times she can run into a wall or take another hard impact with almost no visible reaction; at other times, a similar or smaller event can produce intense distress or a full meltdown. She may show little reaction after vomiting on one occasion yet respond clearly to an injection or another injury. After one bite to her back, she said that her arm hurt and indicated the arm. The same mismatch appeared during severe constipation: she showed no obvious abdominal pain and had a soft, nontender abdomen despite extensive retained stool and a large rectal stool ball. This does not mean that she feels no pain. It means that the intensity, location, and timing of her outward response may not reliably show what her body is experiencing. Adults may therefore need to look for indirect changes in behavior, movement, appetite, sleep, or regulation rather than assuming that a quiet reaction means she is comfortable.
Her family distinguishes ordinary preschool frustration from longer off-baseline changes affecting several domains together: speech access, coordination, muscle tone, sensory response, roughness or aggression, sleep, pain behavior, and ability to engage. Because several functional domains change together, these periods extend beyond ordinary preschool frustration.
During one such off-baseline stretch, she repeatedly used the phrase “control body.” Her family recorded the words without assuming exactly what she was trying to communicate, but they were notable in the context of visible changes in movement and regulation.