Myopathy, and Sensory impairment

Diseases related with Myopathy and Sensory impairment

In the following list you will find some of the most common rare diseases related to Myopathy and Sensory impairment that can help you solving undiagnosed cases.


Top matches:

Low match DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET


Distal myopathy with anterior tibial onset is a rare, genetic neuromuscular disease characterized by a progressive muscle weakness starting in the anterior tibial muscles, later involving lower and upper limb muscles, associated with an increased serum creatine kinase levels and absence of dysferlin on muscle biopsy. Patients become wheelchair dependent.

DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET Is also known as distal anterior compartment myopathy

Related symptoms:

  • Myopathy
  • Elevated serum creatine phosphokinase
  • Distal muscle weakness
  • Distal amyotrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET

Low match KLHL9-RELATED EARLY-ONSET DISTAL MYOPATHY


KLHL9-related early-onset distal myopathy is a rare, genetic distal myopathy characterized by slowly progressive distal limb muscle weakness and atrophy (beginning with anterior tibial muscle involvement followed by the intrinsic hand muscles) in association with reduced sensation in a stocking-glove distribution. Patients present with high stepping gait, ankle areflexia and contractures in the first to second decade of life, associated with marked ankle extensor muscle atrophy; later proximal muscle involvement is moderate and ambulation is preserved throughout the life.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about KLHL9-RELATED EARLY-ONSET DISTAL MYOPATHY

Low match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

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Other less relevant matches:

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC


Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

Low match ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY


Distal myopathy-5 is an autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. Other features include facial weakness and hyporeflexia. Patients remain ambulatory even after long disease duration (summary by Park et al., 2016).

ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY Is also known as adssl1-related distal myopathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • High palate
  • Myopathy
  • Hyporeflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADENYLOSUCCINATE SYNTHETASE-LIKE 1-RELATED DISTAL MYOPATHY

Low match DISTAL MYOPATHY, TATEYAMA TYPE


Distal myopathy, Tateyama type is a rare, genetic, slowly progressive, distal myopathy disorder characterized by muscle atrophy and weakness limited to the small muscles of the hands and feet (in particular, thenar and hypothenar muscle atrophy), increased serum creatine kinase, and severely reduced caveolin-3 expression on muscle biopsy. Some patients may also show calf hypertrophy, pes cavus, and signs of muscle hyperexcitability.

Related symptoms:

  • Muscle weakness
  • Skeletal muscle atrophy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Pes cavus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DISTAL MYOPATHY, TATEYAMA TYPE

Low match CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG


CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Low match CHYLOMICRON RETENTION DISEASE


Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications.

CHYLOMICRON RETENTION DISEASE Is also known as crd|anderson disease|cmrd

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Visual impairment
  • Myopathy
  • Vomiting


SOURCES: ORPHANET MENDELIAN

More info about CHYLOMICRON RETENTION DISEASE

Low match LAING EARLY-ONSET DISTAL MYOPATHY


Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Top 5 symptoms//phenotypes associated to Myopathy and Sensory impairment

Symptoms // Phenotype % cases
Distal muscle weakness Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Pes cavus Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Sensory impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Areflexia Distal sensory impairment Distal amyotrophy Skeletal muscle atrophy Gait disturbance Steppage gait Proximal muscle weakness Peripheral neuropathy Rimmed vacuoles Lower limb muscle weakness Babinski sign Difficulty walking

Rare Symptoms - Less than 30% cases


Hearing impairment Falls Mildly elevated creatine phosphokinase Clumsiness High palate Flexion contracture Muscle fiber splitting Motor delay Impaired vibratory sensation Sensorimotor neuropathy Frequent falls Waddling gait Split hand Facial palsy Generalized hypotonia Ataxia Calf muscle hypertrophy Fasciculations Ragged-red muscle fibers Hammertoe Elevated hepatic transaminase Acanthocytosis Increased hepatocellular lipid droplets Hypocholesterolemia Fat malabsorption Impaired proprioception Visual impairment Vomiting Steatorrhea Retinopathy EMG: myopathic abnormalities Muscular dystrophy Hypertriglyceridemia Abdominal distention Diarrhea Hepatic steatosis Abnormality of vitamin metabolism Peripheral axonal neuropathy Small hand Foot dorsiflexor weakness Ulnar claw Increased connective tissue Distal lower limb amyotrophy Nemaline bodies Decreased motor nerve conduction velocity Congenital contracture Abnormality of the hand Paralysis Limb-girdle muscular dystrophy Gait ataxia Hyperkeratosis Respiratory distress Ptosis Scoliosis Autophagic vacuoles Failure to thrive Myotonia Gowers sign Growth delay Lower limb amyotrophy Palpitations Myalgia Hyporeflexia of lower limbs Progressive muscle weakness Spinal muscular atrophy Upper limb amyotrophy Upper limb muscle weakness Gastritis EMG: neuropathic changes Increased variability in muscle fiber diameter Sensory axonal neuropathy Amyotrophic lateral sclerosis Pyloric stenosis Mitochondrial myopathy Frontotemporal dementia Neck muscle weakness Intention tremor Axonal degeneration Inability to walk Bulbar signs Tremor Dementia Peripheral demyelination Progressive cerebellar ataxia Postural instability Polyneuropathy Unsteady gait Muscle cramps Abnormality of the foot Limb muscle weakness Cerebellar atrophy Dysarthria Pes planus Spasticity Nystagmus Hypotrophy of the small hand muscles



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